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IN THE NEWS • 12/08/2014

Hero of the Month: Dr. Marios Giannakis

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Scientific research is among the best ways we can go on the offensive against colon cancer. That’s why we’ve launched the Blue Hope Research Award, a one-year fellowship providing vital resources and funding to a bright investigator interested in making his mark in the colon cancer space. This year, we utilized the American Association for Cancer Research peer-review process to select our first-ever Blue Hope Research Awardee, Marios Giannakis, M.D., Ph.D., who is taking a deeper look at biomarkers associated with personalized treatment of colon cancer. As we close out 2014 and the term of this first-ever award, we’re proud to report the seriously exciting strides this funding has allowed Dr. Giannakis and his team to make. Their findings are promising and underscore the importance of continued research in the area of biomarkers.

What was the main focus of your research?

We have always known that every patient is unique and deserves an individualized approach; we now have the ability to appreciate how each tumor is different and can utilize that information to create personalized treatments. Through the molecular characterization of hundreds of colorectal cancer samples, this research aimed to gain a better understanding of the mutations (i.e changes at the DNA level) that play an important role in colorectal cancer biology. If we have this understanding, we can ultimately prescribe the most effective treatment plan suited for patients with these specific cancer mutations.

We also have set out to discover the connection between these molecular changes and lifestyle/environmental influences both before and after a cancer diagnosis, allowing us more insight as to what factors play a role in the growth of this cancer. To this end, at the Broad Institute of MIT and Harvard and in collaboration with the Dana Farber Cancer Institute, we are performing DNA sequencing on colorectal cancer samples that we already have a lot of clinical information associated with. We are then analyzing the data and extending our findings with experiments and studies geared toward identifying new biomarker-based colorectal cancer treatments.

What were the primary findings of your research through this grant?

After performing sequencing and analyzing the data from more than 200 colorectal cancer samples, we discovered that a previously unappreciated gene, RNF43, was abnormal (or mutated) in more than 18% of colorectal tumors. RNF43 is involved in Wnt- (Wingless) signaling, a process that is very important for colorectal cancer initiation and growth. Our data suggests that RNF43 mutations may be responsible for “driving” a significant portion of colorectal cancers. We validated this by looking at additional colorectal cancer tumor DNA and discovered mutations in this gene in other tumor types, such as endometrial cancers. This extends what we have found for colorectal cancer to other tumor types as well. Our results make RNF43 one of the most frequently mutated genes in these diseases.

What does this mean for the colon cancer community?

These groundbreaking results could have implications for clinical trials that are currently ongoing in patients using new and innovative drugs that target the Wnt-signaling pathway. Specifically, we hope that the RNF43 mutation can serve as a molecular biomarker that can help patients who are more likely to respond to these new compounds. Given the frequency of RNF43 mutations in colorectal cancer patients, this could apply to thousands of patients coping with this disease.

What was the most surprising thing to you in this study?

Previous colorectal cancer genome sequencing projects have been very useful in helping identify important mutations in this disease. However, RNF43 was missed as a significantly and frequently mutated gene; it was hiding in plain sight but was likely considered to be a false positive in prior efforts. This speaks to the value of revisiting fundamental scientific questions with new tools and fresh approaches. It also teaches us that there is a vast amount of information out there still to be learned that can lead to new cancer treatments.

Why are you proud to be part of this research?

As a physician scientist, I aspire to do research that can be translated into clinical applications that could benefit patients with cancer. I believe our current work is a good example of that. I am also proud to be part of the larger community of oncologists, scientists, patients, their families and everyone else who is supporting the fight against cancer. I am thus extremely grateful to the Colon Cancer Alliance and the Blue Hope Research Award that were instrumental in the realization of this work.

What’s Next

It’s such an exciting and important time in the realm of colon cancer research. The research we’ve been working on has uncovered new findings that now need to be expanded upon. We now need to confirm the role of RNF43 mutations as predictors of response to novel cancer drugs in clinical trials. We are actively pursuing this in our lab. We also need to further understand the effect of these mutations on cancer cell biology, which is also something we’re engaged in through our laboratory work.

2015 Blue Hope Research Award

Every year, 15,000 people under age 50 are diagnosed with colon cancer. What’s even more concerning is that this number is on the rise, even though rates for those over 50 continue to decline. This year we will again utilize the AACR peer review process to evaluate the most promising research projects addressing this unique issue. We’re looking for sponsors and donors to support this and other critical research initiatives. To learn more, contact Nicole Sheahan, Vice President of Development, at (202) 628-0123 ext. 103 or nsheahan@ccalliance.org or donate to our Research Fund.

Don’t forget, the Colon Cancer Alliance serves as a source of information about colon health. If you have additional questions about screening or are in need of support, please contact our free Helpline at (877) 422-2030. We’re here to help!

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